Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

BACKGROUND In Malaysia, the prevalence of genetically confirmed heterozygous familial hypercholesterolemia (FH) was reported as 1 in 427. Despite this, FH remains largely underdiagnosed and undertreated in primary care. CASE REPORT In this case series, we report 3 FH cases detected in primary care d...

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Published in:The American journal of case reports 2023-04, Vol.24, p.e939489-e939489
Main Authors: Kamal, Aisyah, Kanchau, Johanes Dedi, Shahuri, Nur Syahirah, Mohamed-Yassin, Mohamed-Syarif, Baharudin, Noorhida, Abdul Razak, Suraya, Badlishah-Sham, Siti Fatimah, Abdul-Hamid, Hasidah, Abdul Aziz, Aznida Firzah, Al-Khateeb, Alyaa, Chua, Yung An, Mohd Kasim, Noor Alicezah, Sheikh Abdul Kadir, Siti Hamimah, Nawawi, Hapizah, Qureshi, Nadeem, Ramli, Anis Safura
Format: Article
Language:English
Subjects:
Apolipoproteins B - genetics
Apolipoproteins B - therapeutic use
Cholesterol, LDL - genetics
Cholesterol, LDL - therapeutic use
Humans
Hyperlipoproteinemia Type II - diagnosis
Hyperlipoproteinemia Type II - genetics
Mutation
Phenotype
Primary Health Care
Proprotein Convertase 9 - genetics
Proprotein Convertase 9 - therapeutic use
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Summary:BACKGROUND In Malaysia, the prevalence of genetically confirmed heterozygous familial hypercholesterolemia (FH) was reported as 1 in 427. Despite this, FH remains largely underdiagnosed and undertreated in primary care. CASE REPORT In this case series, we report 3 FH cases detected in primary care due to mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein-B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. The mutations in case 1 (frameshift c.660del pathogenic variant in LDLR gene) and case 2 (missense c.10579C>T pathogenic variant in APOB gene) were confirmed as pathogenic, while the mutation in case 3 (missense c.277C>T mutation in PCSK9 gene) may have been benign. In case 1, the patient had the highest LDL-c level, 8.6 mmol/L, and prominent tendon xanthomas. In case 2, the patient had an LDL-c level of 5.7 mmol/L and premature corneal arcus. In case 3, the patient had an LDL-c level of 5.4 mmol/L but had neither of the classical physical findings. Genetic counseling and diagnosis were delivered by primary care physicians. These index cases were initially managed in primary care with statins and therapeutic lifestyle modifications. They were referred to the lipid specialists for up-titration of lipid lowering medications. First-degree relatives were identified and referred for cascade testing. CONCLUSIONS This case series highlights different phenotypical expressions in patients with 3 different FH genetic mutations. Primary care physicians should play a pivotal role in the detection of FH index cases, genetic testing, management, and cascade screening of family members, in partnership with lipid specialists.
ISSN:1941-5923
1941-5923
DOI:10.12659/AJCR.939489